Incidental Mutation 'R7141:Mmut'
ID 553369
Institutional Source Beutler Lab
Gene Symbol Mmut
Ensembl Gene ENSMUSG00000023921
Gene Name methylmalonyl-Coenzyme A mutase
Synonyms D230010K02Rik, Mut
MMRRC Submission 045221-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7141 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 41245576-41272879 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41263730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 500 (V500A)
Ref Sequence ENSEMBL: ENSMUSP00000130941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169611]
AlphaFold P16332
Predicted Effect possibly damaging
Transcript: ENSMUST00000169611
AA Change: V500A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130941
Gene: ENSMUSG00000023921
AA Change: V500A

DomainStartEndE-ValueType
Pfam:MM_CoA_mutase 60 572 3.7e-240 PFAM
Pfam:B12-binding 613 731 4.7e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die within 1 day of birth exhibiting symptoms similar to those observed in patients with methylmalonic aciduria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A C 1: 74,323,270 (GRCm39) probably null Het
Abhd10 C T 16: 45,563,169 (GRCm39) R29Q probably benign Het
Adgrv1 A G 13: 81,640,620 (GRCm39) Y3369H probably benign Het
Agl A G 3: 116,546,935 (GRCm39) I1305T probably benign Het
Apba3 A G 10: 81,108,889 (GRCm39) I551V probably damaging Het
Appbp2 A T 11: 85,082,577 (GRCm39) Y551* probably null Het
Btbd17 T C 11: 114,682,641 (GRCm39) N357S possibly damaging Het
Casp2 T C 6: 42,257,329 (GRCm39) F426S possibly damaging Het
Cdh5 A G 8: 104,839,633 (GRCm39) N35D probably benign Het
Cep350 G T 1: 155,790,494 (GRCm39) Q1354K probably damaging Het
Cep44 A G 8: 56,992,886 (GRCm39) C243R probably damaging Het
Chst4 A T 8: 110,757,471 (GRCm39) S131T probably damaging Het
Cox15 T C 19: 43,725,186 (GRCm39) N406D probably benign Het
Cttnbp2 C T 6: 18,380,467 (GRCm39) R1467H probably benign Het
Dock8 A G 19: 25,158,984 (GRCm39) D1714G probably null Het
Erbb2 G T 11: 98,318,135 (GRCm39) R457L probably damaging Het
Esyt3 T C 9: 99,203,493 (GRCm39) N463S probably benign Het
Fam171a1 C T 2: 3,226,189 (GRCm39) Q441* probably null Het
Fam186b T A 15: 99,181,773 (GRCm39) M142L probably benign Het
Git2 G T 5: 114,907,759 (GRCm39) C35* probably null Het
Gm21103 T G 14: 17,482,795 (GRCm39) Q202P probably damaging Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Hmcn2 C A 2: 31,250,908 (GRCm39) T790K probably benign Het
Hspg2 T A 4: 137,279,427 (GRCm39) L3114H probably damaging Het
Igkv3-10 A T 6: 70,549,965 (GRCm39) Q37L possibly damaging Het
Kcp G T 6: 29,487,511 (GRCm39) Y1106* probably null Het
Khsrp T C 17: 57,332,602 (GRCm39) D226G possibly damaging Het
Klre1 T A 6: 129,560,129 (GRCm39) W134R probably damaging Het
Lrrc66 A G 5: 73,787,320 (GRCm39) I10T probably benign Het
Map4 T C 9: 109,807,938 (GRCm39) M1T probably null Het
Met T A 6: 17,527,154 (GRCm39) I535K probably benign Het
Mrgprb1 A G 7: 48,097,435 (GRCm39) V159A possibly damaging Het
Mrpl41 A G 2: 24,864,468 (GRCm39) L68P probably damaging Het
Mtmr4 T C 11: 87,491,439 (GRCm39) W135R probably damaging Het
Myh10 A G 11: 68,692,965 (GRCm39) D1420G probably benign Het
Naglu A C 11: 100,963,056 (GRCm39) D229A probably benign Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Ncln G T 10: 81,323,683 (GRCm39) Y517* probably null Het
Nr1h4 G A 10: 89,334,091 (GRCm39) R100* probably null Het
Or5k1 G A 16: 58,617,771 (GRCm39) T146M probably benign Het
P2rx5 A T 11: 73,051,474 (GRCm39) T18S probably damaging Het
Pclo T C 5: 14,729,271 (GRCm39) S2710P unknown Het
Pdhx A T 2: 102,903,659 (GRCm39) F46I probably benign Het
Piezo2 A T 18: 63,278,181 (GRCm39) L241* probably null Het
Pitpnm1 G A 19: 4,152,787 (GRCm39) V65M probably damaging Het
Rgs3 A G 4: 62,608,724 (GRCm39) D330G probably damaging Het
Scaf8 T C 17: 3,209,457 (GRCm39) V60A unknown Het
Sema4c A G 1: 36,592,101 (GRCm39) Y249H probably damaging Het
Spp2 T C 1: 88,335,050 (GRCm39) Y27H probably damaging Het
Sugct T A 13: 17,819,372 (GRCm39) I158F possibly damaging Het
Sympk A T 7: 18,788,017 (GRCm39) I1178F probably benign Het
Tmppe T C 9: 114,234,036 (GRCm39) Y112H probably benign Het
Trp53bp2 A G 1: 182,276,073 (GRCm39) T187A Het
Tspoap1 A G 11: 87,665,523 (GRCm39) S754G probably damaging Het
Vmn1r214 C T 13: 23,218,839 (GRCm39) A111V probably benign Het
Vmn2r70 G C 7: 85,208,044 (GRCm39) S811C probably benign Het
Zfp638 T C 6: 83,844,181 (GRCm39) S15P unknown Het
Zfp763 A G 17: 33,237,769 (GRCm39) S459P probably damaging Het
Other mutations in Mmut
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01482:Mmut APN 17 41,267,162 (GRCm39) missense probably damaging 0.99
IGL01666:Mmut APN 17 41,269,702 (GRCm39) missense probably damaging 1.00
IGL02141:Mmut APN 17 41,249,708 (GRCm39) missense possibly damaging 0.68
IGL02257:Mmut APN 17 41,249,625 (GRCm39) missense possibly damaging 0.78
IGL02538:Mmut APN 17 41,249,510 (GRCm39) missense probably damaging 1.00
mix UTSW 17 41,252,274 (GRCm39) missense possibly damaging 0.66
mongrel UTSW 17 41,249,622 (GRCm39) missense possibly damaging 0.77
R0115:Mmut UTSW 17 41,267,118 (GRCm39) missense probably damaging 1.00
R0381:Mmut UTSW 17 41,248,149 (GRCm39) missense probably benign 0.04
R0603:Mmut UTSW 17 41,258,057 (GRCm39) missense probably damaging 0.99
R0928:Mmut UTSW 17 41,248,174 (GRCm39) missense probably benign 0.24
R1292:Mmut UTSW 17 41,252,298 (GRCm39) missense probably damaging 1.00
R1452:Mmut UTSW 17 41,248,359 (GRCm39) splice site probably benign
R1460:Mmut UTSW 17 41,248,266 (GRCm39) missense probably damaging 1.00
R2044:Mmut UTSW 17 41,252,342 (GRCm39) missense probably benign 0.00
R2256:Mmut UTSW 17 41,267,210 (GRCm39) missense probably benign 0.02
R2448:Mmut UTSW 17 41,269,732 (GRCm39) missense probably damaging 0.96
R3113:Mmut UTSW 17 41,269,247 (GRCm39) missense probably damaging 1.00
R3176:Mmut UTSW 17 41,269,763 (GRCm39) splice site probably null
R3276:Mmut UTSW 17 41,269,763 (GRCm39) splice site probably null
R3894:Mmut UTSW 17 41,266,030 (GRCm39) missense probably damaging 0.97
R4624:Mmut UTSW 17 41,257,946 (GRCm39) missense probably damaging 1.00
R4801:Mmut UTSW 17 41,248,242 (GRCm39) missense probably benign 0.08
R4802:Mmut UTSW 17 41,248,242 (GRCm39) missense probably benign 0.08
R5031:Mmut UTSW 17 41,249,718 (GRCm39) missense possibly damaging 0.96
R5394:Mmut UTSW 17 41,258,075 (GRCm39) missense probably benign 0.02
R5651:Mmut UTSW 17 41,258,002 (GRCm39) missense probably damaging 1.00
R6225:Mmut UTSW 17 41,249,622 (GRCm39) missense possibly damaging 0.77
R6274:Mmut UTSW 17 41,267,136 (GRCm39) missense probably benign 0.00
R7002:Mmut UTSW 17 41,252,274 (GRCm39) missense possibly damaging 0.66
R7203:Mmut UTSW 17 41,249,564 (GRCm39) missense probably benign 0.06
R7868:Mmut UTSW 17 41,257,934 (GRCm39) missense probably damaging 1.00
R8050:Mmut UTSW 17 41,254,784 (GRCm39) missense probably benign 0.06
R8228:Mmut UTSW 17 41,248,219 (GRCm39) missense possibly damaging 0.92
R8904:Mmut UTSW 17 41,248,284 (GRCm39) missense probably damaging 1.00
R8977:Mmut UTSW 17 41,249,481 (GRCm39) missense probably benign
R9182:Mmut UTSW 17 41,252,310 (GRCm39) missense probably damaging 1.00
RF021:Mmut UTSW 17 41,262,649 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TAACTGTTCTCTGTATCACAGGATGC -3'
(R):5'- GCATTGCAAATGTAAATGAGCG -3'

Sequencing Primer
(F):5'- ATCACAGGATGCAGTTTCCG -3'
(R):5'- TGCAAATGTAAATGAGCGAAATACC -3'
Posted On 2019-05-15